1187616008: Deficiency of galactose mutarotase (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Deficiency of galactose mutarotase
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of galactose mutarotase
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Deficiency of galactose mutarotase
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of galactose mutarotase
• \Metabolic disease\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia\Deficiency of galactose mutarotase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674367018	Galactosemia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674368011	Galactosaemia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674369015	GALM (galactose mutarotase) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674373017	Deficiency of galactose mutarotase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674374011	Deficiency of galactose mutarotase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674371015	A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674372010	A rare disorder of galactose metabolism characterised by persistent congenital galactosaemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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